Evidence map›Paper›PMID 36376786›Full record

ArticleGenetics, selection, evolution : GSE2022

Failing the four-gamete test enables exact phasing: the Corners' Algorithm.

Luis Gomez-Raya, Wendy M Rauw

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Article in Genetics, selection, evolution : GSE, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 citing paper in PubMed.

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5 · Who and what money

Authors and funding

2 authors.

Luis Gomez-RayaDepartamento de Mejora Genética Animal, Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA-CSIC), Ctra de La Coruña Km 7.5, 28040, Madrid, Spain. gomez.luis@inia.csic.es.ORCID http://orcid.org/0000-0003-1875-3951
Wendy M RauwDepartamento de Mejora Genética Animal, Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA-CSIC), Ctra de La Coruña Km 7.5, 28040, Madrid, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFailing the four-gamete test for two polymorphic DNA markers is an indication that two or three rather than four haplotypes segregate in the population. The objective of this paper is to show that when just three haplotypes are segregating, all three haplotypes can be fully and unambiguously phase-resolved. THEORY AND

methodsThe Corners' Algorithm tests the four corners in a 3 × 3 table of two-locus genotypes. If one of the four corners is filled with zeroes, then the missing haplotype is identified and the phases of all three haplotypes can be unambiguously resolved for all individuals. Three applications of this method are proposed when the four-gamete test fails: (1) direct estimation of linkage disequilibrium (LD), (2) haplotype-based genome-wide association studies (GWAS) of three haplotypes (single-marker GWAS tests for two out of three haplotypes only), and (3) haplotyping of chromosomal regions that are comprised of pairs of single nucleotide polymorphisms (SNPs) that consist of just three haplotypes. An example based on 435 sows with performance records for total number of piglets born is used to illustrate the methods.

resultsOf 20,339 SNPs, approximately 50% of the pairs of flanking SNPs failed the four-gamete test. For those, the expectation maximization (EM) algorithm gave the same results. The average of the absolute value of the difference in r

conclusionsThe Corner's Algorithm allows to fully phase haplotypes when the four-gamete test fails. Longer haplotypes in chromosomal regions in which the four-gamete test fails for any pair of SNPs can be used as a multi-allelic marker with increased polymorphism information content.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideAlgorithmsAnimalsFemaleGene FrequencyGerm CellsHaplotypesLinkage DisequilibriumSwine

Identifiers

PMID36376786
PMCPMC9661815

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.